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Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome.

Proximal Deletion, Proximal Duplication,

All,

This study found that a protein called CD47 is overproduced in brain cells of children with 16p11.2 deletion, which may prevent the brain from naturally clearing excess cells and could help explain why some children with the deletion have larger-than-average head sizes—and importantly, researchers were able to restore normal brain cell behavior using an anti-CD47 antibody treatment in the lab.

Pathophysiology,